Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199620286
rs199620286
VDR
1 1.000 0.040 12 47857193 missense variant T/A snv 5.2E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
MLC1
6 0.807 0.080 22 50077337 intron variant C/T snv 0.14 0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
6 0.807 0.080 22 50079810 intron variant T/C snv 0.22 0.010 1.000 1 2005 2005
dbSNP: rs2236700
rs2236700
MC5R
3 0.882 0.160 18 13826392 missense variant C/G;T snv 2.4E-05; 0.21; 4.0E-06 0.23 0.010 1.000 1 2005 2005
dbSNP: rs3847953
rs3847953
CUX2
1 1.000 0.040 12 111327660 intron variant C/T snv 0.46 0.010 1.000 1 2005 2005
dbSNP: rs758921595
rs758921595
MC5R
1 1.000 0.040 18 13826391 frameshift variant -/G ins 2.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs933399
rs933399
PHETA1 ; LINC02356
1 1.000 0.040 12 111369695 intron variant G/A snv 0.42 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2006 2014
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.060 1.000 6 2006 2019
dbSNP: rs1618355
rs1618355
TRPM2
2 0.925 0.040 21 44406579 intron variant C/A;G snv 0.73; 1.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs6352
rs6352
SLC6A4
2 0.925 0.040 17 30203175 missense variant T/G snv 6.6E-03 4.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2008
dbSNP: rs420259
rs420259
PALB2
2 0.925 0.040 16 23622705 intron variant A/C;G snv 0.810 1.000 3 2007 2011
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2007 2017
dbSNP: rs3788266
rs3788266
S100B
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.020 1.000 2 2007 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2839350
rs2839350 		5 0.827 0.080 21 46597307 downstream gene variant G/A snv 0.22 0.010 1.000 1 2007 2007
dbSNP: rs28757218
rs28757218
OTX2
2 0.925 0.040 14 56805348 intron variant G/A snv 1.0E-02 1.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.964 28 2008 2019
dbSNP: rs10994336
rs10994336
ANK3
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.900 0.933 15 2008 2018
dbSNP: rs1534891
rs1534891
CSNK1E ; TPTEP2-CSNK1E
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.030 1.000 3 2008 2018
dbSNP: rs12899449
rs12899449
LINC02694
1 1.000 0.040 15 38703290 intron variant A/G snv 0.24 0.800 1.000 2 2008 2011
dbSNP: rs1705236
rs1705236
TSPAN8
5 0.827 0.200 12 71151778 intron variant T/A snv 7.6E-02 0.710 1.000 2 2008 2010
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2008 2014
dbSNP: rs746682028
rs746682028
BDNF ; BDNF-AS
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2008 2010